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Dig Liver Dis. 2005 Mar;37(3):159-61. Epub 2004 Dec 9.

The G2964A polymorphism of the STAT6 gene in inflammatory bowel disease.

Author information

1
Department of Human Genetics, Ruhr-University, 44780 Bochum, Germany.

Abstract

BACKGROUND AND AIMS:

Linkage of inflammatory bowel diseases to chromosome 12p13.2-q24.1 (IBD2) has been confirmed in several genome wide screens. The STAT6 gene is located within this chromosomal region. The transcription factor STAT6 is involved in the regulation of the TH1/TH2 immune response. Increased production of TH1 cytokines is crucial in the pathogenesis of Crohn's disease.

PATIENTS AND METHODS:

Therefore, we genotyped a single nucleotide polymorphism in the 3' untranslated region of the STAT6 gene (G2964A) in 243 patients with Crohn's disease, 100 patients with ulcerative colitis and 548 healthy controls.

RESULTS:

In comparison to controls, the G allele and the GG genotype frequencies were significantly increased only in Crohn's disease patients without a variation in the CARD15 gene (p<0.03 and p<0.02, respectively).

CONCLUSIONS:

Alterations in the STAT6 pathway may play a crucial role in the pathogenesis of distinct subgroups of patients with Crohn's disease.

PMID:
15888279
DOI:
10.1016/j.dld.2004.10.011
[Indexed for MEDLINE]

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